When All Else Fails

Anyone with symptoms that prove difficult to diagnose knows how frustrating that can be. Whether they try to figure it out for themselves, or work through one misdiagnosis after another, the lack of clarity becomes a burden unto itself — impacting not only patients’ health but their families, their work and their morale.

The Network for Undiagnosed Diseases, a research initiative funded by the National Institutes for Health Common Fund, spans 12 cities across the U.S. for the purpose of solving “the most challenging medical mysteries using advanced technologies.” The researchers and clinicians involved in the effort understand the burden people face when living with an undiagnosed disease, and aim to relieve that burden by providing answers, while contributing to our knowledge of rare diseases and the human body. To date they have received more than three thousand applications, accepted slightly less than one-third, and out of nearly eleven hundred patient evaluated they have found diagnoses for 298.

What’s rare about the Network is the way in which it brings researchers and clinicians together with an intense focus on solving the patient’s problem. This January article in the New York Times tells the stories of three patients: Dee Reynolds, 60, who was ultimately diagnosed with a rare condition usually found in children; Sara Silva, 44, a former marathon runner who suddenly developed burning, searing sensations in her hands and feet, can no longer tolerate any kind of heat and cannot wear shoes, and suffers from chronic pain; and Zarko Stanacev, 67, who suffered thirty episodes of meningitis over a seventeen year period, and was discovered to have an extremely rare mutation of a gene that was wreaking havoc on his body’s auto-immune defense system. The episodes of meningitis were triggered by this gene without any bacterial or viral infection.